CEP104 Antibody

Catalog Number:

46473

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot:O60308
NCBI Gene ID:9731
NCBI Protein:NP_055519

Form of Antibody:

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

Storage/Stability:

Immunogen:

Synthetic peptide corresponding to internal residues of human CEP104

Purification:

Antigen affinity purification

Specificity/Sensitivity:

The antibody detects endogenous levels of total CEP104 protein.

Applications:

IHC

Background:

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia.

References:

appl_detail:

Immunohistochemistry: 1: 25-100

Datasheet PDF